Cronkhite-Canada Syndrome: A Rare Cause of Chronic Diarrhea

Abstract

Introduction: CCS is a rare non-hereditary disease which presents as diarrhea, intestinal polyps, alopecia, hyper pigmentation and onychodystrophy. It is associated with high mortality and GI malignancies. We present a patient who was diagnosed with CCS and her management. Case presentation: 55 year old Korean female with history of hypothyroidism presented with complaints of diarrhea with intermittent blood, nausea, abdominal pain and weight loss for 2 months. Associated symptoms were alopecia, loss of finger and toe nails. Labs showed albumin 1.2 g/dL, INR 1.4 and microcytic anemia, otherwise normal liver and serum chemistries. Stool work up was unremarkable. EGD revealed extensive gastroduodenitis with biopsy showing edema and marked mucosal hyperplasia. Biopsy of small bowel showed inflammation and blunting of the villi. On colonoscopy innumerous polyps were seen scattered throughout the colon, many of those were inflammatory with adenomatous change favoring the pathologic diagnosis and clinical presentation of CCS. She was treated with nutritional support and steroids, resulting in complete resolution of her cutaneous symptoms and colonoscopic findings. Discussion(s): CCS is a rare non-inherited disorder with incidence of 1 in a million, first reported in 1955 by Cronkhite and Canada. They described 2 females who had GI polyps, cutaneous pigmentation, alopecia and onychodystrophy. Although worldwide cases have been reported, the majority are from Japan. Etiology of CCS is still unclear, however in reported cases it can be associated with SLE, vitiligo and hypothyroidism suggesting an autoimmune trigger. Most polyps are inflammatory and non neoplastic but increased incidence of GI malignancy has been reported. Skin and nail changes are thought to be secondary to malabsorption. Nutritional support with corticosteroids remains mainstay therapy with antibiotics, acid suppressive medications and immunosuppressants as secondary treatment. Untreated CCS is associated with high mortality secondary to complications such as GI bleeding, malignant transformation, CHF and sepsis. Conclusion(s): CCS is a rare entity; clinicians should consider it in patients especially Asians with unexplained diarrhea and ectodermal abnormalities. Given high mortality early diagnosis is important. Diffuse gastrointestinal inflammatory polyposis sparing the esophagus on endoscopy is a hallmark of the disease. Nutritional support with corticosteroids remains the fundamental therapy. (Figure Presented).